Linked Data
ClinVar Variation Id:
2798871
ClinVar RCV Id:
RCV003676043
MyVariant Identifiers:
chr22:g.50964808G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526379G>C , CM000684.2:g.50526379G>C | GRCh38 |
| NC_000022.10:g.50964808G>C , CM000684.1:g.50964808G>C | GRCh37 |
| NC_000022.9:g.49311674G>C | NCBI36 |
| NG_011860.1:g.8707C>G , LRG_727:g.8707C>G | |
| NG_016235.1:g.5061C>G | |
| NG_021419.1:g.23164G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1026C>G (TYMP) MANE Select | ENSP00000252029.3:p.Arg342= | |
| ENST00000395680.6:c.1026C>G (TYMP) | ENSP00000379037.1:p.Arg342= | |
| ENST00000395681.6:c.1026C>G (TYMP) | ENSP00000379038.1:p.Arg342= | |
| ENST00000543927.6:c.-147C>G (SCO2) | ENSP00000444433.1:n.-147C>G | |
| ENST00000650719.1:c.907C>G (TYMP) | ENSP00000498276.1:p.Leu303Val | |
| ENST00000652401.1:c.527C>G (TYMP) | ||
| ENST00000252029.7:c.1026C>G (TYMP) | ENSP00000252029.3:p.Arg342= | |
| ENST00000395678.7:c.1026C>G (TYMP) | ENSP00000379036.3:p.Arg342= | |
| ENST00000395680.5:c.1026C>G (TYMP) | ENSP00000379037.1:p.Arg342= | |
| ENST00000395681.5:c.1026C>G (TYMP) | ENSP00000379038.1:p.Arg342= | |
| ENST00000423348.1:c.-147C>G | ENSP00000403570.1:n.-147C>G | |
| ENST00000425169.1:c.927C>G (TYMP) | ENSP00000395875.1:p.Arg309= | |
| ENST00000476284.1:n.1032C>G (TYMP) | ||
| ENST00000487577.5:n.1313C>G (TYMP) | ||
| ENST00000543927.5:c.-147C>G | ENSP00000444433.1:n.-147C>G | |
| NM_001113755.2:c.1026C>G (TYMP) | NP_001107227.1:p.Arg342= | |
| NM_001113756.2:c.1026C>G (TYMP) | NP_001107228.1:p.Arg342= | |
| NM_001169109.1:c.-147C>G (SCO2) | NP_001162580.1:n.-147C>G | |
| NM_001257988.1:c.1026C>G , LRG_727t1:c.1026C>G (TYMP) | NP_001244917.1:p.Arg342= | |
| NM_001257989.1:c.1026C>G , LRG_727t2:c.1026C>G (TYMP) | NP_001244918.1:p.Arg342= | |
| NM_001953.4:c.1026C>G (TYMP) | NP_001944.1:p.Arg342= | |
| NM_001113755.3:c.1026C>G (TYMP) | NP_001107227.1:p.Arg342= | |
| NM_001113756.3:c.1026C>G (TYMP) | NP_001107228.1:p.Arg342= | |
| NM_001953.5:c.1026C>G (TYMP) MANE Select | NP_001944.1:p.Arg342= | |
| NM_001169109.2:c.-147C>G (SCO2) | NP_001162580.1:n.-147C>G |